Linked Data
dbSNP Id:
rs10772420
ExAC:
12:11174276 G / A
gnomAD v2:
12-11174276-G-A
gnomAD v3:
12-11021677-G-A
gnomAD v4:
12-11021677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11021677G>A , CM000674.2:g.11021677G>A | GRCh38 |
| NC_000012.11:g.11174276G>A , CM000674.1:g.11174276G>A | GRCh37 |
| NC_000012.10:g.11065543G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703543.1:c.-126+25343C>T | ENSP00000515364.1:n.-126+25343C>T | |
| ENST00000535024.6:c.36+25343C>T | ENSP00000481571.2:n.36+25343C>T | |
| ENST00000381852.4:n.425+13105C>T (TAS2R14) | ||
| ENST00000390673.2:c.895C>T (TAS2R19) MANE Select | ENSP00000375091.2:p.Arg299Cys | |
| ENST00000534923.1:n.95+25343C>T (PRR4) | ||
| ENST00000535024.5:c.36+25343C>T (PRR4) | ENSP00000481571.1:n.36+25343C>T | |
| ENST00000536086.2:n.22+25343C>T (PRH1) | ||
| ENST00000536668.2:c.109+13105C>T | ENSP00000482961.1:n.109+13105C>T | |
| ENST00000539853.5:c.-126+25343C>T (PRH1) | ENSP00000482068.1:n.-126+25343C>T | |
| ENST00000541456.1:n.119-15408C>T (PRR4) | ||
| ENST00000541977.5:n.292+25343C>T (PRH1) | ||
| NM_001291314.1:c.-126+25343C>T (PRH1) | NP_001278243.1:n.-126+25343C>T | |
| NM_001291315.1:c.36+25343C>T (PRH1) | NP_001278244.1:n.36+25343C>T | |
| NM_001316893.1:c.140+13105C>T | NP_001303822.1:n.140+13105C>T | |
| NM_176888.2:c.895C>T (TAS2R19) MANE Select | NP_795369.1:p.Arg299Cys | |
| NR_037918.2:n.477+13105C>T | ||
| NR_133575.1:n.371+25343C>T (PRH1) | ||
| NM_001291314.2:c.-126+25343C>T (PRH1) | NP_001278243.1:n.-126+25343C>T | |
| NM_001291315.2:c.36+25343C>T (PRH1) | NP_001278244.1:n.36+25343C>T | |
| NM_001316893.2:c.140+13105C>T | NP_001303822.1:n.140+13105C>T | |
| NR_133575.2:n.359+25343C>T (PRH1) |